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ONTOLOGY REPORT - ANNOTATIONS


Term:asphyxiating thoracic dystrophy 4
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Accession:DOID:0110088 term browser browse the term
Definition:An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. (DO)
Synonyms:exact_synonym: ATD4;   SRTD4;   short-rib thoracic dysplasia 4 with or without polydactyly
 broad_synonym: TTC21B-RELATED DISORDER
 primary_id: OMIM:613819
 alt_id: RDO:9000182
For additional species annotation, visit the Alliance of Genome Resources.


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asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      asphyxiating thoracic dystrophy 40
        asphyxiating thoracic dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal recessive disease 2078
                asphyxiating thoracic dystrophy 40
                  asphyxiating thoracic dystrophy 4 1
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